Skip to content
Use your HSA or FSA funds

Gene

SGCA

sarcoglycan alpha

Summary

Cytogenetic location
17q21.33
Coordinates
Chromosome 17: 50,166,005–50,175,928 (GRCh38)
Exons
10 exons across 9.9 kb
Protein
387 amino acids
Also known as
SCARMD1, LGMD2D, adhalin, DMDA2, A2
Previous symbols
ADL
MANE Select transcript
ENST00000262018.8NM_000023.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

How SGCA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Variants with a page
Chromosome 17, with a bracket where SGCA sits. SGCA and 25 genes near it on chromosome 17, from 49,670,967 to 50,670,966.Chromosome 1717q21.33p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.349.8 Mb50 Mb50.2 Mb50.4 Mb50.6 MbSPOP: 49,598,884–49,678,201, reverse strandSPOPSLC35B1: 49,682,022–49,709,014, reverse strandSLC35B1FAM117A: 49,710,332–49,789,180, reverse strandFAM117AKAT7: 49,788,624–49,835,026, forward strandKAT7TAC4: 49,838,300–49,848,071, reverse strandTAC4DLX4: 49,968,588–49,974,959, forward strandDLX4DLX3: 49,990,005–49,995,224, reverse strandDLX3ITGA3: 50,055,968–50,090,933, forward strandITGA3PDK2: 50,094,737–50,120,276, forward strandPDK2SAMD14: 50,110,040–50,130,160, reverse strandSAMD14PPP1R9B: 50,133,732–50,151,020, reverse strandPPP1R9BSGCA: 50,166,005–50,175,928, forward strandSGCACOL1A1: 50,184,101–50,201,704, reverse strandCOL1A1TMEM92: 50,271,406–50,281,916, forward strandTMEM92XYLT2: 50,346,080–50,363,138, forward strandXYLT2MRPL27: 50,367,293–50,373,207, reverse strandMRPL27EME1: 50,373,215–50,383,858, forward strandEME1LRRC59: 50,375,059–50,398,227, reverse strandLRRC59ACSF2: 50,426,158–50,474,845, forward strandACSF2CHAD: 50,464,478–50,468,976, reverse strandCHADRSAD1: 50,478,770–50,486,371, forward strandRSAD1MYCBPAP: 50,508,409–50,531,501, forward strandMYCBPAPEPN3: 50,532,543–50,543,750, forward strandEPN3SPATA20: 50,543,058–50,558,366, forward strandSPATA20CACNA1G: 50,560,715–50,627,474, forward strandCACNA1GABCC3: 50,634,609–50,692,631, forward strandABCC3Diagram of SGCA: 10 exons on the forward strand of chromosome 17Exon 1: 5 known disease-causing sitesExon 2: 15 known disease-causing sitesExon 3: 40 known disease-causing sitesExon 4: 11 known disease-causing sitesExon 5: 18 known disease-causing sitesExon 6: 22 known disease-causing sitesExon 7: 19 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 1: 50,166,005–50,166,077, 73 basesExon 2: 50,167,368–50,167,487, 120 bases. 3 variants with a page in exon 2. List themExon 3: 50,167,582–50,167,736, 155 bases. 10 variants with a page in exon 3. List themExon 4: 50,167,947–50,168,019, 73 bases. 1 variant with a page in exon 4. List themExon 5: 50,168,374–50,168,572, 199 bases. 3 variants with a page in exon 5. List themExon 6: 50,169,092–50,169,254, 163 bases. 7 variants with a page in exon 6. List themExon 7: 50,170,143–50,170,351, 209 bases. 1 variant with a page in exon 7. List themExon 8: 50,170,640–50,170,666, 27 basesExon 9: 50,175,257–50,175,449, 193 basesExon 10: 50,175,712–50,175,928, 217 bases123456789105′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.4 kb of the gene's 9.9 kb; 1,164 of those bases code for the protein.

How a genome test reads SGCA

162

positions in SGCA where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 9.9 kb of SGCA, introns included, not only the 1.4 kb of exons.

Variants with a page (28)

The SGCA variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A107Vc.320C>TExon 450,167,954Likely pathogenic3 stars out of 4 reviewed by expert panel
c.37+6T>CIntron 150,166,083Pathogenic3 stars out of 4 reviewed by expert panel
c.585-1G>AIntron 550,169,091Pathogenic3 stars out of 4 reviewed by expert panel
c.957-11C>GIntron 750,170,629Likely pathogenic3 stars out of 4 reviewed by expert panel
D234Nc.700G>AExon 650,169,207Likely pathogenic3 stars out of 4 reviewed by expert panel
G68Ec.203G>AExon 350,167,627Likely pathogenic3 stars out of 4 reviewed by expert panel
G168Rc.502G>AExon 550,168,490Likely pathogenic3 stars out of 4 reviewed by expert panel
I103Vc.307A>GExon 350,167,731Pathogenic3 stars out of 4 reviewed by expert panel
L31Pc.92T>CExon 250,167,422Pathogenic3 stars out of 4 reviewed by expert panel
L66Hc.197T>AExon 350,167,621Likely pathogenic3 stars out of 4 reviewed by expert panel

See all 28 SGCA variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SGCA gene: sarcoglycan alpha. Retrieved 16 October 2026, from https://dantelabs.com/genes/sgca

Vancouver

Dante Labs. SGCA gene: sarcoglycan alpha [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sgca

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test